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PIGG phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) [ Homo sapiens (human) ]

Gene ID: 54872, updated on 2-Nov-2024

Summary

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Official Symbol
PIGGprovided by HGNC
Official Full Name
phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group)provided by HGNC
Primary source
HGNC:HGNC:25985
See related
Ensembl:ENSG00000174227 MIM:616918; AllianceGenome:HGNC:25985
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
EMM; GPI7; LAS21; MRT53; NEDHSCA; PRO4405; RLGS1930
Summary
This gene encodes an enzyme involved in glycosylphosphatidylinositol-anchor biosynthesis. The encoded protein, which is localized to the endoplasmic reticulum, is involved in transferring ethanoloamine phosphate to mannose 2 of glycosylphosphatidylinositol species H7 to form species H8. Allelic variants of this gene have been associated with intellectual disability, hypotonia, and early-onset seizures. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
Expression
Ubiquitous expression in skin (RPKM 5.1), thyroid (RPKM 4.0) and 25 other tissues See more
Orthologs
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Genomic context

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See PIGG in Genome Data Viewer
Location:
4p16.3
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (499210..540200)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (492591..533582)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (492999..533989)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene HERV-FRD provirus ancestral Env polyprotein pseudogene Neighboring gene ATP binding cassette subfamily A member 11, pseudogene Neighboring gene zinc finger protein 721 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:459400-459596 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21127 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15098 Neighboring gene HERV-FRD provirus ancestral Env polyprotein pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:492231-493096 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:493097-493960 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21129 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:568739-569432 Neighboring gene uncharacterized LOC105374338 Neighboring gene transmembrane protein 271

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. PIGG variant pathogenicity assessment reveals characteristic features within 19 families. Tremblay-Laganière C, et al. Genet Med, 2021 Oct. PMID 34113002, Free PMC Article
  2. Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia. Makrythanasis P, et al. Am J Hum Genet, 2016 Apr 7. PMID 26996948, Free PMC Article
  3. Reduced cell surface levels of GPI-linked markers in a new case with PIGG loss of function. Zhao JJ, et al. Hum Mutat, 2017 Oct. PMID 28581210, Free PMC Article
  4. Identification and In Silico Characterization of a Novel Point Mutation within the Phosphatidylinositol Glycan Anchor Biosynthesis Class G Gene in an Iranian Family with Intellectual Disability. Parsamanesh N, et al. J Mol Neurosci, 2019 Dec. PMID 31414351
  5. Wolf-Hirschhorn Syndrome – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY. Adam MP, et al. , 1993. PMID 20301362

See all (40) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. PIGG variant pathogenicity assessment reveals characteristic features within 19 families.
    Title: PIGG variant pathogenicity assessment reveals characteristic features within 19 families.
  2. Arg658Gln mutation segregates with nonsyndromic intellectual disability in Iranian family.
    Title: Identification and In Silico Characterization of a Novel Point Mutation within the Phosphatidylinositol Glycan Anchor Biosynthesis Class G Gene in an Iranian Family with Intellectual Disability.
  3. Based on genetic and functional evidence, we confirm that pathogenic variants in PIGG cause an intellectual disability syndrome, and we find that loss of function of PIGG is associated with Glycosylphosphatidylinositol deficiency
    Title: Reduced cell surface levels of GPI-linked markers in a new case with PIGG loss of function.
  4. loss-of-function variants in PIGG associated with intellectual disability and hypotonia
    Title: Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia.
  5. Observational study of gene-disease association. (HuGE Navigator)
    Title: Association of genetic variants with hemorrhagic stroke in Japanese individuals.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
BLOOD GROUP, EMM SYSTEM
MedGen: C5676953 OMIM: 619812 GeneReviews: Not available
Compare labs
Intellectual disability, autosomal recessive 53
MedGen: C4310794 OMIM: 616917 GeneReviews: Not available
Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ20265, FLJ39925, MGC131903, DKFZp434A1810, DKFZp434C1712, DKFZp434M1131

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables CP2 mannose-ethanolamine phosphotransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables CP2 mannose-ethanolamine phosphotransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables phosphotransferase activity, for other substituted phosphate groups TAS
Traceable Author Statement
more info
  
enables transferase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Process Evidence Code Pubs
involved_in GPI anchor biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within GPI anchor biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in GPI anchor biosynthetic process TAS
Traceable Author Statement
more info
  
Component Evidence Code Pubs
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
  
located_in membrane HDA PubMed 

General protein information

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Preferred Names
GPI ethanolamine phosphate transferase 2
Names
EMM blood group antigen
LAS21 (GPI7) homolog
phosphatidylinositol-glycan biosynthesis class G protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_051621.1 RefSeqGene

    Range
    5011..46001
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001127178.3 → NP_001120650.1  GPI ethanolamine phosphate transferase 2 isoform 1

    See identical proteins and their annotated locations for NP_001120650.1

    Status: REVIEWED

    Source sequence(s)
    AB162713, AC116565, AL162084, DA548833
    Consensus CDS
    CCDS46992.1
    UniProtKB/Swiss-Prot
    B4DKC7, Q2TAK5, Q5H8A4, Q6UX31, Q7L5Y4, Q8N866, Q8NCC9, Q96SY9, Q9BVT7, Q9NXG5
    UniProtKB/TrEMBL
    Q8NCI4
    Related
    ENSP00000415203.2, ENST00000453061.7
    Conserved Domains (1) summary
    cd16024
    Location:62 → 335
    GPI_EPT_2; GPI ethanolamine phosphate transferase 2; PIG-G

  2. NM_001289051.2 → NP_001275980.1  GPI ethanolamine phosphate transferase 2 isoform 3

    See identical proteins and their annotated locations for NP_001275980.1

    Status: REVIEWED

    Source sequence(s)
    AC116565, AK074715, AL162084, BC001249, DA548833
    Consensus CDS
    CCDS75081.1
    UniProtKB/TrEMBL
    E7EWV1, Q8NCI4
    Related
    ENSP00000424800.1, ENST00000504346.5
    Conserved Domains (1) summary
    cd16024
    Location:1 → 246
    GPI_EPT_2; GPI ethanolamine phosphate transferase 2; PIG-G

  3. NM_001289052.2 → NP_001275981.1  GPI ethanolamine phosphate transferase 2 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AB162713, AC116565, AL162084, BC110878, DA548833
    Consensus CDS
    CCDS75080.1
    UniProtKB/TrEMBL
    Q8NCI4
    Related
    ENSP00000372494.4, ENST00000383028.8
    Conserved Domains (1) summary
    cl23718
    Location:62 → 202
    ALP_like; alkaline phosphatases and sulfatases

  4. NM_001289053.2 → NP_001275982.1  GPI ethanolamine phosphate transferase 2 isoform 5

    Status: REVIEWED

    Source sequence(s)
    BC050262, DA548833
    Consensus CDS
    CCDS75082.1
    UniProtKB/TrEMBL
    D6RFE8
    Related
    ENSP00000421550.1, ENST00000509768.1
    Conserved Domains (1) summary
    cd16024
    Location:1 → 246
    GPI_EPT_2; GPI ethanolamine phosphate transferase 2; PIG-G

  5. NM_001289055.2 → NP_001275984.1  GPI ethanolamine phosphate transferase 2 isoform 6

    See identical proteins and their annotated locations for NP_001275984.1

    Status: REVIEWED

    Source sequence(s)
    AK296507, BC050262
    UniProtKB/Swiss-Prot
    Q5H8A4
    Conserved Domains (1) summary
    cd16024
    Location:1 → 213
    GPI_EPT_2; GPI ethanolamine phosphate transferase 2; PIG-G

  6. NM_001289057.2 → NP_001275986.1  GPI ethanolamine phosphate transferase 2 isoform 7

    See identical proteins and their annotated locations for NP_001275986.1

    Status: REVIEWED

    Source sequence(s)
    AK097244, BC050262, DA548833
    Consensus CDS
    CCDS75083.1
    UniProtKB/Swiss-Prot
    Q5H8A4
    Related
    ENSP00000426002.1, ENST00000503111.5
    Conserved Domains (1) summary
    cd16024
    Location:1 → 246
    GPI_EPT_2; GPI ethanolamine phosphate transferase 2; PIG-G

  7. NM_001345986.2 → NP_001332915.1  GPI ethanolamine phosphate transferase 2 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC092574, AC116565
    Consensus CDS
    CCDS75081.1
    UniProtKB/TrEMBL
    E7EWV1, Q8NCI4

  8. NM_001345987.2 → NP_001332916.1  GPI ethanolamine phosphate transferase 2 isoform 8

    Status: REVIEWED

    Source sequence(s)
    AC092574, AC116565
    UniProtKB/TrEMBL
    Q8NCI4

  9. NM_001345988.2 → NP_001332917.1  GPI ethanolamine phosphate transferase 2 isoform 9

    Status: REVIEWED

    Source sequence(s)
    AC092574, AC116565

  10. NM_001345989.2 → NP_001332918.1  GPI ethanolamine phosphate transferase 2 isoform 10

    Status: REVIEWED

    Source sequence(s)
    AC092574, AC116565
    Conserved Domains (2) summary
    COG1524
    Location:43 → 311
    Npp1; Predicted pyrophosphatase or phosphodiesterase, AlkP superfamily [General function prediction only]
    cd16024
    Location:62 → 335
    GPI_EPT_2; GPI ethanolamine phosphate transferase 2; PIG-G

  11. NM_001345990.2 → NP_001332919.1  GPI ethanolamine phosphate transferase 2 isoform 11

    Status: REVIEWED

    Source sequence(s)
    AC092574, AC116565

  12. NM_001345991.2 → NP_001332920.1  GPI ethanolamine phosphate transferase 2 isoform 11

    Status: REVIEWED

    Source sequence(s)
    AC092574, AC116565

  13. NM_001345994.2 → NP_001332923.1  GPI ethanolamine phosphate transferase 2 isoform 12

    Status: REVIEWED

    Source sequence(s)
    AC092574, AC116565

  14. NM_017733.5 → NP_060203.3  GPI ethanolamine phosphate transferase 2 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC116565, AK000272, AK074815, AL162084, DA548833
    Consensus CDS
    CCDS3336.1
    UniProtKB/TrEMBL
    Q8NCI4
    Related
    ENSP00000311750.5, ENST00000310340.9
    Conserved Domains (1) summary
    cd16024
    Location:62 → 335
    GPI_EPT_2; GPI ethanolamine phosphate transferase 2; PIG-G

RNA

  1. NR_110293.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC116565, AL162084, BC144576, DA548833

  2. NR_144326.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC092574, AC116565

  3. NR_144327.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC092574, AC116565

  4. NR_144328.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC092574, AC116565

  5. NR_144329.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC092574, AC116565

  6. NR_144330.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC092574, AC116565

  7. NR_144331.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC092574, AC116565

  8. NR_144332.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC092574, AC116565

  9. NR_144333.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC092574, AC116565

  10. NR_144334.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC092574, AC116565

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    499210..540200
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011513490.4 → XP_011511792.1  GPI ethanolamine phosphate transferase 2 isoform X1

    UniProtKB/TrEMBL
    Q8NCI4
    Conserved Domains (1) summary
    cd16024
    Location:62 → 335
    GPI_EPT_2; GPI ethanolamine phosphate transferase 2; PIG-G

  2. XM_047415850.1 → XP_047271806.1  GPI ethanolamine phosphate transferase 2 isoform X7

  3. XM_047415853.1 → XP_047271809.1  GPI ethanolamine phosphate transferase 2 isoform X11

  4. XM_047415851.1 → XP_047271807.1  GPI ethanolamine phosphate transferase 2 isoform X8

  5. XM_047415848.1 → XP_047271804.1  GPI ethanolamine phosphate transferase 2 isoform X4

  6. XM_047415847.1 → XP_047271803.1  GPI ethanolamine phosphate transferase 2 isoform X3

  7. XM_047415849.1 → XP_047271805.1  GPI ethanolamine phosphate transferase 2 isoform X6

  8. XM_047415855.1 → XP_047271811.1  GPI ethanolamine phosphate transferase 2 isoform X13

  9. XM_011513494.4 → XP_011511796.1  GPI ethanolamine phosphate transferase 2 isoform X9

    Conserved Domains (1) summary
    cd16024
    Location:62 → 335
    GPI_EPT_2; GPI ethanolamine phosphate transferase 2; PIG-G

  10. XM_047415854.1 → XP_047271810.1  GPI ethanolamine phosphate transferase 2 isoform X12

  11. XM_047415856.1 → XP_047271812.1  GPI ethanolamine phosphate transferase 2 isoform X14

    UniProtKB/TrEMBL
    E7EM50
    Related
    ENSP00000424619.1, ENST00000506402.5

  12. XM_047415857.1 → XP_047271813.1  GPI ethanolamine phosphate transferase 2 isoform X15

  13. XM_047415846.1 → XP_047271802.1  GPI ethanolamine phosphate transferase 2 isoform X2

  14. XM_011513492.2 → XP_011511794.1  GPI ethanolamine phosphate transferase 2 isoform X5

  15. XM_047415852.1 → XP_047271808.1  GPI ethanolamine phosphate transferase 2 isoform X10

RNA

  1. XR_924965.4 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    492591..533582
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054350286.1 → XP_054206261.1  GPI ethanolamine phosphate transferase 2 isoform X1

  2. XM_054350292.1 → XP_054206267.1  GPI ethanolamine phosphate transferase 2 isoform X7

  3. XM_054350289.1 → XP_054206264.1  GPI ethanolamine phosphate transferase 2 isoform X4

  4. XM_054350296.1 → XP_054206271.1  GPI ethanolamine phosphate transferase 2 isoform X11

  5. XM_054350293.1 → XP_054206268.1  GPI ethanolamine phosphate transferase 2 isoform X8

  6. XM_054350288.1 → XP_054206263.1  GPI ethanolamine phosphate transferase 2 isoform X3

  7. XM_054350291.1 → XP_054206266.1  GPI ethanolamine phosphate transferase 2 isoform X6

  8. XM_054350294.1 → XP_054206269.1  GPI ethanolamine phosphate transferase 2 isoform X9

  9. XM_054350297.1 → XP_054206272.1  GPI ethanolamine phosphate transferase 2 isoform X12

  10. XM_054350298.1 → XP_054206273.1  GPI ethanolamine phosphate transferase 2 isoform X13

  11. XM_054350299.1 → XP_054206274.1  GPI ethanolamine phosphate transferase 2 isoform X14

    UniProtKB/TrEMBL
    E7EM50

  12. XM_054350300.1 → XP_054206275.1  GPI ethanolamine phosphate transferase 2 isoform X15

  13. XM_054350287.1 → XP_054206262.1  GPI ethanolamine phosphate transferase 2 isoform X2

  14. XM_054350290.1 → XP_054206265.1  GPI ethanolamine phosphate transferase 2 isoform X5

  15. XM_054350295.1 → XP_054206270.1  GPI ethanolamine phosphate transferase 2 isoform X10

RNA

  1. XR_008487001.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q5H8A4.1 GenPept UniProtKB/Swiss-Prot:Q5H8A4

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